Article

Incomplete penetrance of a KANSL1 loss of function variant resolved by RNA analysis, a case report

2024-08-11

Abstract excerpt

<title>Abstract</title> <p>Background Epilepsy is a prevalent neurological disorder, affecting approximately 1% of the global population. The extensive clinical and genetic variability in epilepsy makes accurate diagnosis a significant challenge. Case presentation In this study, we describe a girl with a clinical presentation of developmental and epileptic encephalopathy (DEE). Using whole genome sequencing (WG...

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Literature Corpus work: b43fc2c8-3f29-5a0f-84f0-97f8351d1fb3
DOI: 10.21203/rs.3.rs-4710959/v1

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Incomplete penetrance of a KANSL1 loss of function variant resolved by RNA analysis, a case reportDOI 10.21203/rs.3.rs-4710959/v1Read

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